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Acyl-CoA Oxidase Deficiency via the ACOX1 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4085 ACOX1 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4085ACOX181479 81479,81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Greg Fischer, PhD

Clinical Features and Genetics

Clinical Features

Acyl-CoA oxidase deficiency is a rare inborn metabolism error of peroxisomal fatty acid beta-oxidation and is also called pseudoneonatal adrenoleukodystrophy. The clinical features include neonatal hypotonia, seizures, psychomotor delay, and neurological deterioration. Most reported patients died during childhood. Progressive white matter demyelination can be found by brain imaging. Biochemically, patients have highly elevated plasma VLCFAs (C26:0 and C26/C22 ratio) but normal phytanic acid, pristanic acid, and plasmalogen metabolism (Poll-The et al. 1998; Ferdinandusse et al. 2007).

Genetics

Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive disorder caused by mutations in the ACOX1 gene. Acyl-CoA oxidase encoded by ACOX1 is the key enzyme in the peroxisomal fatty acid beta-oxidation pathway and produces hydrogen peroxide as a byproduct (Fournier et al. 1994; Li et al. 2000). Reported mutation spectrum includes missense, nonsense, splicing site mutations, small deletion/insertions, and large deletions. No clear genotype-phenotype correlation has been found (Ferdinandusse et al. 2007).

Clinical Sensitivity - Sequencing with CNV PG-Select

In a cohort of 22 patients with peroxisomal acyl-CoA oxidase deficiency, ACOX1 pathogenic variants were found in all studied cases, including 2 gross deletions (Ferdinandusse et al. 2007).

Testing Strategy

This test provides full coverage of all coding exons of the ACOX1 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with clinical symptoms and biochemical findings consistent with acyl-CoA oxidase deficiency. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ACOX1.

Gene

Official Gene Symbol OMIM ID
ACOX1 609751
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Peroxisomal Acyl-CoA Oxidase Deficiency AR 264470

Citations

  • Ferdinandusse S, Denis S, Hogenhout EM, Koster J, Roermund CWT van, IJlst L, Moser AB, Wanders RJA, Waterham HR. 2007. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum. Mutat. 28: 904–912. PubMed ID: 17458872
  • Fournier B, Saudubray JM, Benichou B, Lyonnet S, Munnich A, Clevers H, Poll-The BT. 1994. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. Journal of Clinical Investigation 94: 526-531. PubMed ID: 8040306
  • Li Y, Tharappel JC, Cooper S, Glenn M, Glauert HP, Spear BT. 2000. Expression of the hydrogen peroxide-generating enzyme fatty acyl CoA oxidase activates NF-kappaB. DNA Cell Biol. 19: 113-120. PubMed ID: 10701777
  • Poll-The BT, Roels F, Ogier H, Scotto J, Vamecq J, Schutgens RB, Wanders RJ, Roermund CW van, Wijland MJ van, Schram AW, others. 1988. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of Acyl-CoA oxidase (pseudo–Neonatal adrenoleukodystrophy). American journal of human genetics 42: 422-434. PubMed ID: 2894756

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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